This is a 35-year-old, G2P1, without relevant past obstetrical history. The first exam performed at 12 weeks showed a cystic hygroma. The patient was referred to our unit at 16 weeks. The scan revealed:

Bilateral hydrocephaly

Cystic hygroma without anasarca

Inferior limbs which seemed spindly

Single umbilical artery

An abnormal profile: bird-headed profile

Superior limbs were normal

Normal spine

An amniocentesis was performed. The result was 46XX,r(15). The parents were informed and decided to interrupt the pregnancy. The interruption was done at 18 weeks. The postnatal examination confirmed all the anomalies. There were signs of viral infection. The skeletal radiology was normal at this term. The parents were informed about the recurrence risk.

This dysmorphology is characterized by:

Intrauterine growth retardation

Microcephaly

Abnormal facies with a “bird-like” profile

Radial anomalies

Mental deficiency is always present in the survivors

Endovaginal scan at 16 weeks. Left image: Transversal view of the brain. Note the bilateral hydrocephaly. Right image: Coronal view of the neck with the cystic hygroma.